Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD DITF-RND; The Solve-RD Consortium; Rebecca Schüle; Dagmar Timmann; Corrie E. Erasmus; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd

doi:10.1038/s41431-021-00901-1

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Solve-RD DITF-RND, The Solve-RD Consortium, Rebecca Schüle, Dagmar Timmann, Corrie E. Erasmus, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	European Journal of Human Genetics
Volym	29
Nummer	9
Sidor (från-till)	1332-1336
Antal sidor	5
ISSN	1018-4813
DOI	https://doi.org/10.1038/s41431-021-00901-1
Status	Publicerad - sep. 2021
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1038/s41431-021-00901-1

s41431-021-00901-1Slutlig publicerad version, 843 KBLicens: CC BY

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@article{0c336dfbcfc94cfc8398e18ca7d92814,

title = "Solving unsolved rare neurological diseases—a Solve-RD viewpoint",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "{Solve-RD DITF-RND} and {The Solve-RD Consortium} and Rebecca Sch{\"u}le and Dagmar Timmann and Erasmus, {Corrie E.} and Jennifer Reichbauer and Melanie Wayand and Jonathan Baets and Peter Balicza and Patrick Chinnery and Alexandra D{\"u}rr and Tobias Haack and Holger Hengel and Rita Horvath and Henry Houlden and Kamsteeg, {Erik Jan} and Christoph Kamsteeg and Katja Lohmann and Alfons Macaya and Anna Marc{\'e}-Grau and Ales Maver and Molnar, {Maria Judit} and Alexander M{\"u}nchau and Borut Peterlin and Olaf Riess and Ludger Sch{\"o}ls and Giovanni Stevanin and Matthis Synofzik and Vincent Timmerman and {van de Warrenburg}, Bart and {van Os}, Nienke and Jana Vandrovcova and Melanie Wayand and Carlo Wilke and {van de Warrenburg}, Bart and Ludger Sch{\"o}ls and Carlo Wilke and Andrea Bevot and Stephan Zuchner and Sergi Beltran and Steven Laurie and Leslie Matalonga and Holm Graessner and Matthis Synofzik and Birte Zurek and Kornelia Ellwanger and Stephan Ossowski and Sebastian K{\"o}hler and Peter Hackman and Mridul Johari and Marco Savarese and Bjarne Udd",

note = "Funding Information: Funding The Solve-RD project has received funding from the European Union{\textquoteright}s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinform{\'a}tica, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of T{\"u}bingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510). Funding Information: Conflict of interest HG receives/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium f{\"u}r Bildung und Forschung (BMBF), the Bundesministerium f{\"u}r Gesundheit (BMG) and the European Union (EU). He has received consulting fees from Roche. He has received a speaker honorarium from Takeda. The authors declare no competing interests.",

year = "2021",

month = sep,

doi = "10.1038/s41431-021-00901-1",

language = "English",

volume = "29",

pages = "1332--1336",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "9",

}

TY - JOUR

T1 - Solving unsolved rare neurological diseases—a Solve-RD viewpoint

AU - Solve-RD DITF-RND

AU - The Solve-RD Consortium

AU - Schüle, Rebecca

AU - Timmann, Dagmar

AU - Erasmus, Corrie E.

AU - Reichbauer, Jennifer

AU - Wayand, Melanie

AU - Baets, Jonathan

AU - Balicza, Peter

AU - Chinnery, Patrick

AU - Dürr, Alexandra

AU - Haack, Tobias

AU - Hengel, Holger

AU - Horvath, Rita

AU - Houlden, Henry

AU - Kamsteeg, Erik Jan

AU - Kamsteeg, Christoph

AU - Lohmann, Katja

AU - Macaya, Alfons

AU - Marcé-Grau, Anna

AU - Maver, Ales

AU - Molnar, Maria Judit

AU - Münchau, Alexander

AU - Peterlin, Borut

AU - Riess, Olaf

AU - Schöls, Ludger

AU - Stevanin, Giovanni

AU - Synofzik, Matthis

AU - Timmerman, Vincent

AU - van de Warrenburg, Bart

AU - van Os, Nienke

AU - Vandrovcova, Jana

AU - Wayand, Melanie

AU - Wilke, Carlo

AU - van de Warrenburg, Bart

AU - Schöls, Ludger

AU - Wilke, Carlo

AU - Bevot, Andrea

AU - Zuchner, Stephan

AU - Beltran, Sergi

AU - Laurie, Steven

AU - Matalonga, Leslie

AU - Graessner, Holm

AU - Synofzik, Matthis

AU - Zurek, Birte

AU - Ellwanger, Kornelia

AU - Ossowski, Stephan

AU - Köhler, Sebastian

AU - Hackman, Peter

AU - Johari, Mridul

AU - Savarese, Marco

AU - Udd, Bjarne

N1 - Funding Information: Funding The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of Tübingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510). Funding Information: Conflict of interest HG receives/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the Bundesministerium für Gesundheit (BMG) and the European Union (EU). He has received consulting fees from Roche. He has received a speaker honorarium from Takeda. The authors declare no competing interests.

PY - 2021/9

Y1 - 2021/9

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

UR - http://www.scopus.com/inward/record.url?scp=85105877975&partnerID=8YFLogxK

U2 - 10.1038/s41431-021-00901-1

DO - 10.1038/s41431-021-00901-1

M3 - Article

C2 - 33972714

AN - SCOPUS:85105877975

VL - 29

SP - 1332

EP - 1336

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 9

ER -